Canonical Allele Identifier: CA2839758
Community Standard Title: NM_006005.3(WFS1):c.2514T>C (p.Pro838=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302309T>C , CM000666.2:g.6302309T>C GRCh38
NC_000004.11:g.6304036T>C , CM000666.1:g.6304036T>C GRCh37
NC_000004.10:g.6354937T>C NCBI36
NG_011700.1:g.37460T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2514T>C MANE Select NP_005996.2:p.Pro838=
ENST00000226760.5:c.2514T>C MANE Select ENSP00000226760.1:p.Pro838=
NM_001145853.1:c.2514T>C NP_001139325.1:p.Pro838=
ENST00000503569.5:c.2514T>C ENSP00000423337.1:p.Pro838=
ENST00000506362.2:c.2265T>C ENSP00000424103.2:p.Pro755=
ENST00000507765.1:n.2699T>C
ENST00000673991.1:c.2550T>C ENSP00000501033.1:p.Pro850=
ENST00000682275.1:c.2550T>C ENSP00000507852.1:p.Pro850=
ENST00000683395.1:c.2491T>C
ENST00000684087.1:c.2514T>C ENSP00000506978.1:p.Pro838=
XM_017008586.1:c.2523T>C XP_016864075.1:p.Pro841=